Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000691489 | SCV000819272 | pathogenic | Congenital dyserythropoietic anemia, type II; Cowden syndrome 7 | 2023-04-16 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals affected with SEC23B-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg503*) in the SEC23B gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SEC23B are known to be pathogenic (PMID: 19561605, 25044164). ClinVar contains an entry for this variant (Variation ID: 570596). For these reasons, this variant has been classified as Pathogenic. |
Gene |
RCV002269303 | SCV002552715 | likely pathogenic | not provided | 2022-01-25 | criteria provided, single submitter | clinical testing | Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 31589614) |
Fulgent Genetics, |
RCV000691489 | SCV005656384 | likely pathogenic | Congenital dyserythropoietic anemia, type II; Cowden syndrome 7 | 2024-05-14 | criteria provided, single submitter | clinical testing |